| Metadata | |
|---|---|
| ID | DOID:0110120 |
| Name | Axenfeld-Rieger syndrome type 1 |
| Definition | An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/8944018 |
| Xrefs | |
| Synonyms |
RIEG1 [EXACT] Rieger syndrome type 1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |